Aliases & Descriptions for Mthfr Gene Mutation:

Summaries for Mthfr Gene Mutation

NIH Rare Diseases:46 Mthfr gene mutation is a genetic change that affects an enzyme involved in breaking down the amino acid, homocysteine. roughly 33% of americans carry one copy of a common mthfr gene mutation (c677t). having one copy of c677t or another common variant a1298c is not associated with significant health risks. likewise, having two copies of a1298c is not associated with significant health risks.
roughly, 11% of americans have two c677t mutations. these people (as well as those with both a c677t and a1298c mutation) have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. specifically, studies suggest that people with two c677t gene mutations have a 16% higher chance of developing
coronary heart disease compared to people without these
mutations.
for information about rare mthfr gene mutations, visit our page: homocystinuria due to mthfr deficiency.
last updated: 8/23/2016

MalaCards based summary: Mthfr Gene Mutation, also known as methylenetetrahydrofolate reductase mutation, is related to budd-chiari syndrome and thrombophilia. An important gene associated with Mthfr Gene Mutation is MTHFR (Methylenetetrahydrofolate Reductase). Affiliated tissues include heart, endothelial and colon.